title: The functional -94 insertion/deletion ATTG polymorphism in the promoter region of NFKB1 gene increases the risk of sporadic colorectal cancer.
abstract: OBJECTIVE
  To investigate the allele and genotype frequencies of NFKB1 -94 ins/del ATTG (rs28720239) polymorphism and to evaluate the association between the polymorphism and colorectal cancer (CRC) risk in Malaysian population.
  
  
  METHODS
  Genomic DNA was extracted from the peripheral blood samples of 474 study subjects, which consisted of 237 histopathologically confirmed CRC patients and an equal number of cancer-free controls. The NFKB1 -94 ins/del ATTG (rs28720239) polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and confirmed by DNA sequencing. The association between the polymorphic genotypes and CRC risk was evaluated by deriving odds ratios (ORs) and 95% confidence intervals (CIs) using unconditional logistic regression analysis.
  
  
  RESULTS
  The frequencies of wildtype (del/del), heterozygous (del/ins) and variant (ins/ins) genotypes in CRC patients were 31.7%, 53.6% and 14.8%, respectively, while those in cancer-free controls were 35.0%, 58.2% and 6.8%, respectively. The frequency of the variant genotype was significantly higher in cases compared to controls (P<0.01). Evaluation of the risk association of the polymorphic genotypes revealed that the variant genotype could contribute to a significantly increased risk of CRC (OR=2.42, 95% CI=1.24-4.73, P<0.01).
  
  
  CONCLUSIONS
  The variant allele of NFKB1 -94 ins/del ATTG (rs28362491) polymorphism is associated with higher risk of sporadic CRC in Malaysian population.
authors.affiliation: Human Genome Centre, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Mohd Shafi'i
authors.initials: MS
authors.lastname: Mohd Suzairi
authors.forename: Shing Cheng
authors.initials: SC
authors.lastname: Tan
authors.forename: Abdul Aziz
authors.initials: AA
authors.lastname: Ahmad Aizat
authors.forename: Mustapha
authors.initials: M
authors.lastname: Mohd Aminudin
authors.forename: Mohd Shahpudin
authors.initials: MS
authors.lastname: Siti Nurfatimah
authors.forename: Zakaria Dzulkarnaen
authors.initials: ZD
authors.lastname: Andee
authors.forename: Ravindran
authors.initials: R
authors.lastname: Ankathil
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D055815:Young Adult
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human
keywords: Colorectal cancer; NFKB1; Polymorphism; Predisposition; Risk; Susceptibility; rs28362491